ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003236248 SCV003933709 pathogenic Ellis-van Creveld syndrome 2023-06-17 criteria provided, single submitter research

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